Neuropathy, hereditary sensory, type ie

Preferred Label : Neuropathy, hereditary sensory, type ie;

Symbol : HSN1E;

CISMeF acronym : HSN1E;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hsn ie; Neuropathy, hereditary sensory, with hearing loss and dementia;

Description : Hereditary sensory neuropathy type IE is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive peripheral sensory loss associated with progressive hearing impairment and early-onset dementia (summary by Klein et al., 2011). For a discussion of genetic heterogeneity of HSN, see HSAN1A (162400).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the DNA methyltransferase 1 gene (DNMT1, 126375.0001);

Prefixed ID : #614116;

Details

Origin ID

614116;

UMLS CUI

C3279885;

Automatic exact mappings (from CISMeF team)
- FSCN1 wt Allele [NCIt concept]
- Hereditary sensory neuropathy type V [PASCAL descriptor]
Currated CISMeF NLP mapping
- Hereditary sensory and autonomic neuropathy Type IE [ICD-11 More detail]
- Hereditary sensory autonomic neuropathy type IE (disorder) [SNOMED CT concept]
- Hereditary sensory neuropathy-deafness-dementia syndrome [ORDO Disease]
- hereditary sensory and autonomic neuropathy type ie [MeSH Supplementary Concept]
- hereditary sensory and autonomic neuropathy type ie [MeSH concept]
- hereditary sensory neuropathy type 1E [DO Concept]
DO Cross reference
- hereditary sensory neuropathy type 1E [DO Concept]
Genes related to phenotype
- Dna methyltransferase 1 [OMIM gene]
HPO term(s)
- Apathy [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Decreased number of peripheral myelinated nerve fibers [HPO term]
- Delirium [HPO term]
- Dementia [HPO term]
- Excessive daytime somnolence [HPO term]
- Hearing impairment [HPO term]
- Hyporeflexia [HPO term]
- Impulsivity [HPO term]
- Irritability [HPO term]
- Memory impairment [HPO term]
- Osteomyelitis [HPO term]
- Progressive [HPO term]
- Sensorineural hearing impairment [HPO term]
- Sensory neuropathy [HPO term]
ORDO concept(s)
- Hereditary sensory neuropathy-deafness-dementia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary sensory and autonomic neuropathy Type IE [ICD-11 More detail]
- Hereditary sensory autonomic neuropathy type IE (disorder) [SNOMED CT concept]
- Hereditary sensory neuropathy-deafness-dementia syndrome [ORDO Disease]
- hereditary sensory and autonomic neuropathy type ie [MeSH concept]
- hereditary sensory and autonomic neuropathy type ie [MeSH Supplementary Concept]
- hereditary sensory neuropathy type 1E [DO Concept]
Validated automatic mappings to NTBT
- Hereditary sensory and autonomic neuropathy type 1 [ORDO Disease]

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